Phenotypes associated with this allele

• Allele Symbol: Psen1^tm1Vln
• Allele Name: targeted mutation 1, Fred Van Leuven
• Allele ID: MGI:2684616
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Psen1^tm1Vln/Psen1^tm1Vln	Not Specified	MGI:2684624
cn2	Psen1^tm1Vln/Psen1^tm1Vln Tg(Thy1-cre)1Vln/0	involves: FVB/N	MGI:2684657
cn3	Psen1^tm1Vln/Psen1^tm1Vln Tg(Thy1-APPLon)2Vln/0 Tg(Thy1-cre)1Vln/0	involves: FVB/N	MGI:2684658

Genotype
MGI:2684624

hm1

• Allelic Composition: Psen1^tm1Vln/Psen1^tm1Vln
• Genetic Background: Not Specified

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

normal phenotype

no abnormal phenotype detected ( J:87229 )

Genotype
MGI:2684657

cn2

• Allelic Composition: Psen1^tm1Vln/Psen1^tm1Vln; Tg(Thy1-cre)1Vln/0
• Genetic Background: involves: FVB/N

behavior/neurological

behavior/neurological phenotype ( J:87229 )

N • mice do not display any behavioral or cognitive deficits

nervous system

nervous system phenotype ( J:87229 )

N • brains of 6 month-old mice do not show any morphological abnormalities like cerebral hemorrhages, cavities or tumors; no defects are observed up to 2 years of age

amyloid beta deposits ( J:87229 )

• levels of amyloid beta-40 and -42 (Abeta40, Abeta42) are reduced relative to controls; C-terminal fragments of APP accumulate in brains

abnormal long-term potentiation ( J:87229 )

• initial phase of the slope of fEPSP is lower (168% vs 221% in controls) 15 minutes after tetanic stimulation; slope of fEPSP progressively increases to approach control levels 2 hours following stimulation

homeostasis/metabolism

amyloid beta deposits ( J:87229 )

• levels of amyloid beta-40 and -42 (Abeta40, Abeta42) are reduced relative to controls; C-terminal fragments of APP accumulate in brains

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alzheimer's disease		DOID:10652		J:87229
Alzheimer's disease 3		DOID:0110042	OMIM:607822	J:87229

Genotype
MGI:2684658

cn3

• Allelic Composition: Psen1^tm1Vln/Psen1^tm1Vln; Tg(Thy1-APPLon)2Vln/0; Tg(Thy1-cre)1Vln/0
• Genetic Background: involves: FVB/N

behavior/neurological

abnormal object recognition memory ( J:87229 )

• retention of object recognition is normal at 1 hr after training but testing of animals 3 hours after familiarization with an object reveals significant impairment relative to controls

nervous system

nervous system phenotype ( J:87229 )

N • no thioflavin-S-reactive amyloid plaques or diffuse amyloid deposits are detected in mice up to 18 months of age

abnormal long-term potentiation ( J:87229 )

• with tetanic stimulation of hippocampal slices, after an initial slight decrease, the slope of the fEPSP approached control levels; LTP in transgenic brain slices is comparable to controls